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Table 2 Nine SNPs selected for functional evaluation

From: Multiple regulatory variants located in cell type-specific enhancers within the PKP2 locus form major risk and protective haplotypes for canine atopic dermatitis in German shepherd dogs

SNP

SNP 27:18,861,228

SNP 27:19,086,778

SNP 27:19,093,355

SNP 27:19,096,199

SNP 27:19,112,169

SNP 27:19,114,170

SNP 27:19,124,996

SNP 27:19,135,677

SNP 27:19,140,837

Haplotype ID

GSD cases (%) a

GSD controls (%) a

p-valueb

OR

Control alleles

C

C

C

T

A

C

T

G

T

5

84.6

97.6

0.0032

0.14 (95 CI: 0.03–0.6)

Risk alleles

A

T

T

G

G

G

A

A

G

20

35.2

9.6

5.9×10−5

5.1 (95 CI: 2.2–11.9)

Association p-value in GSD

1.3×10−5

2.7×10−6

7.1×10−5

2.8×10−5

1.9×10−5

1.9×10−5

3.8×10−6

1.0×10−5

2.7×10−6

     

Rank in association analyses:

              

GWAS

2

na

na

na

na

na

na

na

1

     

GSD fine-map

16

1

37

26

21

20

3

12

1

     

GSD + LRCAD breeds

64

1

9

4

2

3

14

1

15

     
  1. Haplotype 5 was present in GSD, Boxer, Smalands hound, Golden retriever, Bull terrier, Elkhound, Hovawart, Giant Schnauzer, Irish wolfhound, Irish soft-coated wheaten terrier, and Wachtelhund
  2. Haplotype 20 was present in GSD, Labrador and Golden retriever
  3. a Dogs either heterozygous or homozygous for the allele in %
  4. b Fisher’s Exact probability test, two-tailed